Canonical Allele Identifier: CA340442299

Gene: FAM151A ACOT11

Linked Data

• dbSNP Id: rs1401311067
• gnomAD v4: 1-54609677-C-T
• COSMIC: COSM4525706
• MyVariant Identifiers: chr1:g.55075350C>T (hg19) ; chr1:g.54609677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.54609677C>T , CM000663.2:g.54609677C>T	GRCh38
NC_000001.10:g.55075350C>T , CM000663.1:g.55075350C>T	GRCh37
NC_000001.9:g.54847938C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302250.7:c.1349G>A (FAM151A) MANE Select	ENSP00000306888.2:p.Gly450Glu
ENST00000343744.7:c.*565C>T (ACOT11) MANE Select	ENSP00000340260.2:n.*565C>T
ENST00000302250.6:c.1349G>A (FAM151A)	ENSP00000306888.2:p.Gly450Glu
ENST00000343744.6:c.*565C>T (ACOT11)	ENSP00000340260.2:n.*565C>T
ENST00000371304.2:c.918-130G>A (FAM151A)	ENSP00000360353.2:n.918-130G>A
ENST00000371316.3:c.1629+1609C>T (ACOT11)	ENSP00000360366.3:n.1629+1609C>T
ENST00000481208.5:n.2428C>T (ACOT11)
NM_015547.3:c.1629+1609C>T (ACOT11)	NP_056362.1:n.1629+1609C>T
NM_147161.3:c.*565C>T (ACOT11)	NP_671517.1:n.*565C>T
NM_176782.2:c.1349G>A (FAM151A)	NP_788954.2:p.Gly450Glu
XM_006710599.2:c.1271G>A (FAM151A)	XP_006710662.1:p.Gly424Glu
XM_006710599.3:c.1271G>A (FAM151A)	XP_006710662.1:p.Gly424Glu
NM_176782.3:c.1349G>A (FAM151A) MANE Select	NP_788954.2:p.Gly450Glu
NM_015547.4:c.1629+1609C>T (ACOT11)	NP_056362.1:n.1629+1609C>T
NM_147161.4:c.*565C>T (ACOT11) MANE Select	NP_671517.1:n.*565C>T